The Helix
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- Open AccessCongenital immobility and stiffness related to biallelic ATAD1 variantsRoxane Bunod, Diane Doummar, Sandra Whalen, Boris Keren, Sandra Chantot-Bastaraud, Kim Maincent, Marie-Charlotte Villy, Michèle Mayer, Diana Rodriguez, Lydie Burglen, Pierre-Louis Léger, François Kieffer, Isabelle Martin, Delphine Héron, Julien Buratti, Arnaud Isapof, Alexandra Afenjar, Thierry Billette de Villemeur, Cyril Mignot
- Open AccessAssociation of blood-based transcriptional risk scores with biomarkers for Alzheimer diseaseYoung Ho Park, Angela Hodges, Andrew Simmons, Simon Lovestone, Michael W. Weiner, SangYun Kim, Andrew J. Saykin, Kwangsik Nho, For the AddNeuroMed consortium and the Alzheimer's Disease Neuroimaging Initiative
- Open AccessNeurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutationsVanessa Zanette, Aurelio Reyes, Mark Johnson, Daniel do Valle, Alan J. Robinson, Vaneisse Monteiro, Bruno Augusto Telles, Ricardo L.R. Souza, Mara L S.F. Santos, Cristiane Benincá, Massimo Zeviani
- Open AccessPOLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophyHitoshi Kashiki, Heng Li, Sachiko Miyamoto, Hiroe Ueno, Yoshinori Tsurusaki, Chizuru Ikeda, Hirofumi Kurata, Takumi Okada, Tomoyuki Shimazu, Hoseki Imamura, Yumi Enomoto, Jun-ichi Takanashi, Kenji Kurosawa, Hirotomo Saitsu, Ken Inoue
- Open AccessBiotinidase deficiencyA treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M. Riedhammer, Leonie F. Keidel, Gwendolyn Gramer, Thomas Meitinger, Thomas Klopstock, Matias Wagner
- Open AccessPrimary mitochondrial myopathyClinical features and outcome measures in 118 cases from ItalyVincenzo Montano, Francesco Gruosso, Valerio Carelli, Giacomo Pietro Comi, Massimiliano Filosto, Costanza Lamperti, Tiziana Mongini, Olimpia Musumeci, Serenella Servidei, Paola Tonin, Antonio Toscano, Angela Modenese, Guido Primiano, Maria Lucia Valentino, Sara Bortolani, Silvia Marchet, Megi Meneri, Graziana Tavilla, Gabriele Siciliano, Michelangelo Mancuso
- Open AccessHeterozygous variants in DCCBeyond congenital mirror movementsSebastian Thams, Mominul Islam, Marie Lindefeldt, Ann Nordgren, Tobias Granberg, Bianca Tesi, Gisela Barbany, Daniel Nilsson, Martin Paucar
- Open AccessThe SPID-GBA studySex distribution, Penetrance, Incidence, and Dementia in GBA-PDLetizia Straniero, Rosanna Asselta, Salvatore Bonvegna, Valeria Rimoldi, Giada Melistaccio, Giulia Soldà, Massimo Aureli, Matteo Della Porta, Ugo Lucca, Alessio Di Fonzo, Anna Zecchinelli, Gianni Pezzoli, Roberto Cilia, Stefano Duga
- Open AccessPractical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophyIvon Cuscó, Sara Bernal, Laura Blasco-Pérez, Maite Calucho, Laura Alias, Pablo Fuentes-Prior, Eduardo F. Tizzano
- Open AccessGenotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variantsFederica Malerba, Giulio Alberini, Ganna Balagura, Francesca Marchese, Elisabetta Amadori, Antonella Riva, Maria Stella Vari, Elena Gennaro, Francesca Madia, Vincenzo Salpietro, Marco Angriman, Lucio Giordano, Patrizia Accorsi, Marina Trivisano, Nicola Specchio, Angelo Russo, Giuseppe Gobbi, Federico Raviglione, Tiziana Pisano, Carla Marini, Maria M. Mancardi, Lino Nobili, Elena Freri, Barbara Castellotti, Giuseppe Capovilla, Antonietta Coppola, Alberto Verrotti, Paola Martelli, Francesco Miceli, Luca Maragliano, Fabio Benfenati, Maria R. Cilio, Kathrine M. Johannesen, Rikke S. Møller, Berten Ceulemans, Carlo Minetti, Sarah Weckhuysen, Federico Zara, Maurizio Taglialatela, Pasquale Striano
- Open AccessNew recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromesStéphanie Bauché, Alain Sureau, Damien Sternberg, John Rendu, Céline Buon, Julien Messéant, Myriam Boëx, Denis Furling, Julien Fauré, Xénia Latypova, Antoinette Bernabe Gelot, Michèle Mayer, Pierre Mary, Sandra Whalen, Emmanuel Fournier, Isabelle Cloix, Ganaelle Remerand, Fanny Laffargue, Marie-Christine Nougues, Bertrand Fontaine, Bruno Eymard, Arnaud Isapof, Laure Strochlic
Clinical/Scientific Notes
- Open AccessBlended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6Takashi Odo, Tomoko Okamoto, Noriko Sato, Yuji Takahashi
- Open AccessCerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variantYuji Sugawara, Tomoko Mizuno, Kengo Moriyama, Hisako Ishiwata, Mitsuhiro Kato, Mitsuko Nakashima, Takeshi Mizuguchi, Naomichi Matsumoto
- Open AccessNeuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathyTasuku Ishihara, Tomoko Okamoto, Ken Saida, Yuji Saitoh, Shinji Oda, Terunori Sano, Takuhiro Yoshida, Yuki Morita, Atsushi Fujita, Hiromi Fukuda, Noriko Miyake, Takeshi Mizuguchi, Yuko Saito, Yoshiki Sekijima, Naomichi Matsumoto, Yuji Takahashi
- Open AccessKetogenic diet reduces Lafora bodies in murine Lafora diseaseLori Israelian, Peixiang Wang, Shoghig Gabrielian, Xiaochu Zhao, Berge A. Minassian
- Open AccessHerpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutationTimo Hautala, Jie Chen, Laura Tervonen, Terhi Partanen, Satu Winqvist, Johanna Lehtonen, Janna Saarela, Minna Kraatari, Outi Kuismin, Tytti Vuorinen, Virpi Glumoff, Pirjo Åström, Usko Huuskonen, Lazaro Lorenzo, Jean-Laurent Casanova, Shen-Ying Zhang, Mikko R.J. Seppänen
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